Search results for col2a1

100 hits were found for col2a1

# Family MCID Name MIFTS Score
1
OST062 Osteoarthritis with Mild Chondrodysplasia 21 10.806
2
KNS001 Kniest Dysplasia 53 5.360
3
SDC002 Sed Congenita 53 4.962
4
c STC015 Stickler Syndrome, Type I 36 4.934
5
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 51 4.668
6
SMD002 Smed Strudwick Type 39 4.591
7
P STC001 Stickler Syndrome 55 4.550
8
P AVS004 Avascular Necrosis of the Femoral Head 56 4.542
9
LGG001 Legg-Calve-Perthes Disease 57 4.444
10
CZC002 Czech Dysplasia 32 4.444
11
P OST012 Osteoarthritis 83 4.399
12
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 29 4.328
13
SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 17 4.202
14
SPN154 Spondyloperipheral Dysplasia 31 4.158
15
EPP008 Epiphyseal Dysplasia, Multiple, with Myopia and Deafness 22 3.946
16
STC009 Stickler Sydrome, Type I, Nonsyndromic Ocular 19 3.899
17
c CL2002 Col2a1-Related Stickler Syndrome 10 3.704
18
CL2001 Col2a1-Associated Stickler Syndrome 6 3.704
19
RTN017 Retinal Detachment 56 3.635
20
P MYP006 Myopia 56 3.635
21
P ACH011 Achondrogenesis 39 3.616
22
P SPN250 Spondyloepimetaphyseal Dysplasia 47 3.596
23
SKL014 Skeletal Dysplasia 46 3.353
24
OTS002 Otospondylomegaepiphyseal Dysplasia 48 3.315
25
P RTN025 Retinoschisis 58 3.247
26
SNS001 Sensorineural Hearing Loss 57 3.247
27
DST005 Diastrophic Dysplasia 53 3.247
28
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 42 3.247
29
P BRC006 Brachydactyly 54 3.221
30
P MLT007 Multiple Epiphyseal Dysplasia 50 3.221
31
HYP041 Hypochondrogenesis 38 3.110
32
P CLL020 Collagenopathy Type 2 Alpha 1 14 3.109
33
DYS134 Dysspondyloenchondromatosis 16 2.960
34
c TYP019 Type Ii Collagenopathies 12 2.960
35
c ACH033 Achondrogenesis, Type Ia 43 2.936
36
P SCL018 Scoliosis 55 2.910
37
OST015 Osteochondrodysplasia 52 2.910
38
c CNG021 Congenital Toxoplasmosis 48 2.910
39
OST003 Osteonecrosis 45 2.910
40
WSS003 Weissenbacher-Zweymuller Syndrome 41 2.910
41
P BRC003 Brachyolmia 25 2.910
42
CMP005 Campomelic Dysplasia 55 2.881
43
CLF027 Cleft Palate, Isolated 55 2.881
44
P CLL015 Collagen Disease 50 2.881
45
PYL017 Pyle Disease 45 2.881
46
VTR002 Vitreous Syneresis 24 2.881
47
SKL017 Skeletal Dysplasias 45 2.650
48
P WGN003 Wagner Syndrome 36 2.557
49
SPN361 Spondylometaphyseal Dysplasia, Algerian Type 26 2.557
50
OSM002 Osmed Syndrome 21 2.557
51
c STC013 Stickler Syndrome, Type Ii 41 2.528
52
SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 16 2.528
53
BLL001 Baller-Gerold Syndrome 51 2.495
54
OST016 Osteochondrosis 50 2.495
55
MRS002 Marshall Syndrome 49 2.495
56
CRT017 Cartilage Disease 45 2.495
57
MTP026 Metaphyseal Chondrodysplasia, Murk Jansen Type 44 2.495
58
SYN031 Synovial Chondromatosis 42 2.495
59
P SPN061 Spondyloepiphyseal Dysplasia Tarda 41 2.495
60
BND014 Bone Development Disease 40 2.495
61
SNW001 Snowflake Vitreoretinal Degeneration 38 2.495
62
c OST112 Osteoarthritis-5 38 2.495
63
BNS002 Bone Structure Disease 37 2.495
64
ISC005 Ischemic Bone Disease 36 2.495
65
SCH072 Scheuermann Disease 36 2.495
66
PLM021 Pilomyxoid Astrocytoma 35 2.495
67
PRP026 Peripheral Retinal Degeneration 34 2.495
68
P VTR008 Vitreoretinal Degeneration 33 2.495
69
RTN002 Retinal Perforation 31 2.495
70
P BRT040 Baraitser-Winter Syndrome 31 2.495
71
EYD001 Eye Degenerative Disease 30 2.495
72
VTR001 Vitreoretinal Dystrophy 29 2.495
73
c MLG049 Malignant Syringoma 23 2.495
74
PRN008 Peroneal Nerve Paralysis 22 2.495
75
c FML048 Familial Avascular Necrosis of the Femoral Head 10 2.076
76
MCR037 Macroglossia 45 2.037
77
BNN003 Bone Inflammation Disease 44 2.037
78
c HYP559 Hypotrichosis 8 38 2.037
79
c BRC045 Brachyolmia Type 3 34 2.037
80
PCT001 Pectus Carinatum 28 2.037
81
RTN023 Retinitis 50 0.137
82
P CHN012 Chondrosarcoma 56 0.087
83
c MYP018 Myopia 6 31 0.087
84
P RHM011 Rheumatoid Arthritis 89 0.061
85
P OVR042 Ovarian Cancer 76 0.061
86
P ART022 Arthritis 75 0.061
87
INS024 Insulin-Like Growth Factor I 75 0.061
88
P OST005 Osteogenesis Imperfecta 69 0.061
89
ACH004 Achondroplasia 66 0.061
90
P TXP001 Toxoplasmosis 61 0.061
91
P CTR002 Cataract 58 0.061
92
P SYN001 Syndactyly 53 0.061
93
PSD012 Pseudoachondroplasia 51 0.061
94
c ACH035 Achondrogenesis Ib 43 0.061
95
SPN119 Spondylarthropathy 42 0.061
96
CHR078 Chorioretinitis 40 0.061
97
KSH004 Kashin-Beck Disease 33 0.061
98
c STC014 Stickler Syndrome, Type Iii 32 0.061
99
LYS010 Lysyl Hydroxylase 3 Deficiency 21 0.061
100
c SPN300 Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 12 0.061
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